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AAMDC adipogenesis associated Mth938 domain containing [ Homo sapiens (human) ]

Gene ID: 28971, updated on 10-Dec-2024

Summary

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Official Symbol
AAMDCprovided by HGNC
Official Full Name
adipogenesis associated Mth938 domain containingprovided by HGNC
Primary source
HGNC:HGNC:30205
See related
Ensembl:ENSG00000087884 MIM:620474; AllianceGenome:HGNC:30205
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CK067; PTD015; C11orf67
Summary
Predicted to be involved in positive regulation of fat cell differentiation. Predicted to act upstream of or within negative regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in adrenal (RPKM 14.7), fat (RPKM 11.2) and 24 other tissues See more
Orthologs
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Genomic context

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See AAMDC in Genome Data Viewer
Location:
11q14.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (77821144..77906024)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (77754365..77839260)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77532190..77617070)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene remodeling and spacing factor 1 Neighboring gene UPF0764 protein C16orf89-like Neighboring gene MPRA-validated peak1365 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77530149-77531122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77531123-77532095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3803 Neighboring gene ribosomal protein S20 pseudogene 27 Neighboring gene ribosomal protein L21 pseudogene 95 Neighboring gene integrator complex subunit 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77643873-77644620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77644621-77645367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3804 Neighboring gene MPRA-validated peak1367 silencer Neighboring gene NDUFC2-KCTD14 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77727696-77728196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733111-77733678 Neighboring gene uncharacterized LOC124902723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733679-77734248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77734249-77734816 Neighboring gene Sharpr-MPRA regulatory region 11011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77741282-77741794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3805 Neighboring gene Sharpr-MPRA regulatory region 10650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77750634-77751590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3807 Neighboring gene potassium channel tetramerization domain containing 14 Neighboring gene NADH:ubiquinone oxidoreductase subunit C2 Neighboring gene thyroid hormone responsive

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer. Golden E, et al. Nat Commun, 2021 Mar 26. PMID 33772001, Free PMC Article
  2. Adipogenesis associated Mth938 domain containing (AAMDC) protein expression is regulated by alternative polyadenylation and microRNAs. Xiao R, et al. FEBS Lett, 2019 Jul. PMID 31116411
  3. LOC66273 isoform 2, a novel protein highly expressed in white adipose tissue, induces adipogenesis in 3T3-L1 cells. Ma X, et al. J Nutr, 2012 Mar. PMID 22279136
  4. Extracellular proximal interaction profiling by cell surface-targeted TurboID reveals LDLR as a partner of liganded EGFR. Al Mismar R, et al. Sci Signal, 2024 Nov 5. PMID 39499777
  5. Mapping Extracellular Protein-Protein Interactions Using Extracellular Proximity Labeling (ePL). Peeney D, et al. J Proteome Res, 2024 Oct 4. PMID 39238192,

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer.
    Title: The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer.
  2. AAMDC is post-transcriptionally regulated through APA and microRNAs
    Title: Adipogenesis associated Mth938 domain containing (AAMDC) protein expression is regulated by alternative polyadenylation and microRNAs.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3367, FLJ21035

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of fat cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
mth938 domain-containing protein
Names
UPF0366 protein C11orf67
adipogenesis associated Mth938 domain-containing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001316957.3 → NP_001303886.1  mth938 domain-containing protein isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS81605.1
    UniProtKB/TrEMBL
    K4DI89
    Related
    ENSP00000307254.8, ENST00000304716.12
    Conserved Domains (1) summary
    cd05126
    Location:5 → 93
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  2. NM_001316958.3 → NP_001303887.1  mth938 domain-containing protein isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2 and 12 both encode the same isoform (b).
    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS81604.1
    UniProtKB/TrEMBL
    E9PLK9
    Related
    ENSP00000433281.1, ENST00000527134.5
    Conserved Domains (1) summary
    cl00182
    Location:5 → 93
    Mth938-like; Mth938-like domain. The members of this family include: Mth938, 2P1, Xcr35, Rpa2829, and several uncharacterized sequences. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a ...

  3. NM_001316960.2 → NP_001303889.1  mth938 domain-containing protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and has an alternate exon in place of the last two exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 3-6 and 13-16 all encode the same isoform (c).
    Source sequence(s)
    BC002752, BI791786, BP270361
    Consensus CDS
    CCDS8254.1
    UniProtKB/Swiss-Prot
    Q96AQ4, Q9H7C9, Q9Y6B1
    Conserved Domains (1) summary
    cd05126
    Location:5 → 120
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  4. NM_001316961.2 → NP_001303890.1  mth938 domain-containing protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and has an alternate exon in place of the last two exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 3-6 and 13-16 all encode the same isoform (c).
    Source sequence(s)
    AI569731, AP002812, BC002752, BP270361
    Consensus CDS
    CCDS8254.1
    UniProtKB/Swiss-Prot
    Q96AQ4, Q9H7C9, Q9Y6B1
    Conserved Domains (1) summary
    cd05126
    Location:5 → 120
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  5. NM_001316962.2 → NP_001303891.1  mth938 domain-containing protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has an alternate exon in place of the last two exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 3-6 and 13-16 all encode the same isoform (c).
    Source sequence(s)
    BM930331, BP270361
    Consensus CDS
    CCDS8254.1
    UniProtKB/Swiss-Prot
    Q96AQ4, Q9H7C9, Q9Y6B1
    Related
    ENSP00000431808.1, ENST00000526415.5
    Conserved Domains (1) summary
    cd05126
    Location:5 → 120
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  6. NM_001363564.2 → NP_001350493.2  mth938 domain-containing protein isoform c

    Status: VALIDATED

    Source sequence(s)
    AP002812
    Consensus CDS
    CCDS8254.1
    UniProtKB/Swiss-Prot
    Q96AQ4, Q9H7C9, Q9Y6B1
    Related
    ENSP00000432830.2, ENST00000525034.1
    Conserved Domains (1) summary
    cd05126
    Location:5 → 120
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  7. NM_001392031.1 → NP_001378960.1  mth938 domain-containing protein isoform e

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS91546.1
    UniProtKB/TrEMBL
    E9PR47
    Conserved Domains (1) summary
    cd05126
    Location:5 → 166
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  8. NM_001392032.1 → NP_001378961.1  mth938 domain-containing protein isoform e

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS91546.1
    UniProtKB/TrEMBL
    E9PR47
    Conserved Domains (1) summary
    cd05126
    Location:5 → 166
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  9. NM_001392033.1 → NP_001378962.1  mth938 domain-containing protein isoform e

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS91546.1
    UniProtKB/TrEMBL
    E9PR47
    Conserved Domains (1) summary
    cd05126
    Location:5 → 166
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  10. NM_001392034.1 → NP_001378963.1  mth938 domain-containing protein isoform b

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS81604.1
    UniProtKB/TrEMBL
    E9PLK9
    Conserved Domains (1) summary
    cl00182
    Location:5 → 93
    Mth938-like; Mth938-like domain. The members of this family include: Mth938, 2P1, Xcr35, Rpa2829, and several uncharacterized sequences. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a ...

  11. NM_001392035.1 → NP_001378964.1  mth938 domain-containing protein isoform c

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS8254.1
    UniProtKB/Swiss-Prot
    Q96AQ4, Q9H7C9, Q9Y6B1
    Conserved Domains (1) summary
    cd05126
    Location:5 → 120
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  12. NM_001392036.1 → NP_001378965.1  mth938 domain-containing protein isoform c

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS8254.1
    UniProtKB/Swiss-Prot
    Q96AQ4, Q9H7C9, Q9Y6B1
    Conserved Domains (1) summary
    cd05126
    Location:5 → 120
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  13. NM_001392037.1 → NP_001378966.1  mth938 domain-containing protein isoform c

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS8254.1
    UniProtKB/Swiss-Prot
    Q96AQ4, Q9H7C9, Q9Y6B1
    Conserved Domains (1) summary
    cd05126
    Location:5 → 120
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  14. NM_001392038.1 → NP_001378967.1  mth938 domain-containing protein isoform c

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812
    Consensus CDS
    CCDS8254.1
    UniProtKB/Swiss-Prot
    Q96AQ4, Q9H7C9, Q9Y6B1
    Conserved Domains (1) summary
    cd05126
    Location:5 → 120
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

  15. NM_001392068.1 → NP_001378997.1  mth938 domain-containing protein isoform f

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812
    UniProtKB/TrEMBL
    E9PJP1
    Conserved Domains (1) summary
    cl00182
    Location:5 → 76
    Mth938-like; Mth938-like domain. The members of this family include: Mth938, 2P1, Xcr35, Rpa2829, and several uncharacterized sequences. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a ...

  16. NM_024684.4 → NP_078960.1  mth938 domain-containing protein isoform c

    See identical proteins and their annotated locations for NP_078960.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has an alternate exon in place of the last two exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 3-6 and 13-16 all encode the same isoform (c).
    Source sequence(s)
    BC002752, BP270361
    Consensus CDS
    CCDS8254.1
    UniProtKB/Swiss-Prot
    Q96AQ4, Q9H7C9, Q9Y6B1
    Related
    ENSP00000377078.2, ENST00000393427.7
    Conserved Domains (1) summary
    cd05126
    Location:5 → 120
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

RNA

  1. NR_133637.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an alternate 5' exon and an alternate 3' exon, and contains another alternate 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP000580, AP002812

  2. NR_171640.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812

  3. NR_171642.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812

  4. NR_171643.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP000580, AP002812

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    77821144..77906024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426836.1 → XP_047282792.1  mth938 domain-containing protein isoform X1

  2. XM_047426838.1 → XP_047282794.1  mth938 domain-containing protein isoform X3

    UniProtKB/TrEMBL
    E9PNP3

  3. XM_047426839.1 → XP_047282795.1  mth938 domain-containing protein isoform X3

    UniProtKB/TrEMBL
    E9PNP3

  4. XM_047426837.1 → XP_047282793.1  mth938 domain-containing protein isoform X2

    UniProtKB/TrEMBL
    E9PR47
    Related
    ENSP00000436086.1, ENST00000533193.5

  5. XM_017017620.2 → XP_016873109.1  mth938 domain-containing protein isoform X4

    Conserved Domains (1) summary
    cd05126
    Location:24 → 112
    Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    77754365..77839260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368561.1 → XP_054224536.1  mth938 domain-containing protein isoform X1

  2. XM_054368563.1 → XP_054224538.1  mth938 domain-containing protein isoform X3

    UniProtKB/TrEMBL
    E9PNP3

  3. XM_054368564.1 → XP_054224539.1  mth938 domain-containing protein isoform X3

    UniProtKB/TrEMBL
    E9PNP3

  4. XM_054368562.1 → XP_054224537.1  mth938 domain-containing protein isoform X2

    UniProtKB/TrEMBL
    E9PR47

  5. XM_054368565.1 → XP_054224540.1  mth938 domain-containing protein isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H7C9.1 GenPept UniProtKB/Swiss-Prot:Q9H7C9

Gene LinkOut

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